LOCUS       NM_031946               3494 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH
            domain 3 (AGAP3), transcript variant 1, mRNA.
ACCESSION   NM_031946
VERSION     NM_031946.7
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3494)
  AUTHORS   Jiang,S., Han,X., Liu,T., He,Y., Zhao,Z., Liu,T., Cheng,S.,
            Zhang,J., Duan,L., Liu,Y., Cheng,T., Liu,Y., Ye,Q. and Gao,S.
  TITLE     HUNK inhibits cargo uptake and lysosomal traffic in the caveolar
            pathway via the AGAP3/ARF6
  JOURNAL   Sci Bull (Beijing) 69 (2), 173-178 (2024)
   PUBMED   38071109
  REMARK    GeneRIF: HUNK inhibits cargo uptake and lysosomal traffic in the
            caveolar pathway via the AGAP3/ARF6.
REFERENCE   2  (bases 1 to 3494)
  AUTHORS   Torrence,D., Xie,Z., Zhang,L., Chi,P. and Antonescu,C.R.
  TITLE     Gastrointestinal stromal tumors with BRAF gene fusions. A report of
            two cases showing low or absent KIT expression resulting in
            diagnostic pitfalls
  JOURNAL   Genes Chromosomes Cancer 60 (12), 789-795 (2021)
   PUBMED   34398495
  REMARK    GeneRIF: Gastrointestinal stromal tumors with BRAF gene fusions. A
            report of two cases showing low or absent KIT expression resulting
            in diagnostic pitfalls.
REFERENCE   3  (bases 1 to 3494)
  AUTHORS   Shimizu,D., Masuda,T., Sato,K., Tsuruda,Y., Otsu,H., Kuroda,Y.,
            Eguchi,H., Kodera,Y. and Mimori,K.
  TITLE     CRMP5-associated GTPase (CRAG) Is a Candidate Driver Gene for
            Colorectal Cancer Carcinogenesis
  JOURNAL   Anticancer Res 39 (1), 99-106 (2019)
   PUBMED   30591445
  REMARK    GeneRIF: AGAP3 expression was significantly increased in colorectal
            cancer (CRC)and colorectal adenoma compared to normal tissue. CRAG
            overexpression up-regulated c-Jun expression, and significantly
            increased cell proliferation and colony formation capability. AGAP3
            expression did not have a concordant association with patient
            prognosis among datasets
REFERENCE   4  (bases 1 to 3494)
  AUTHORS   Shiba,Y. and Randazzo,P.A.
  TITLE     ArfGAPs: key regulators for receptor sorting
  JOURNAL   Receptors Clin Investig 1 (5), e158 (2014)
   PUBMED   26046097
REFERENCE   5  (bases 1 to 3494)
  AUTHORS   Oku,Y. and Huganir,R.L.
  TITLE     AGAP3 and Arf6 regulate trafficking of AMPA receptors and synaptic
            plasticity
  JOURNAL   J Neurosci 33 (31), 12586-12598 (2013)
   PUBMED   23904596
  REMARK    GeneRIF: AGAP3 is an essential signaling component of the NMDA
            receptor complex that links NMDA receptor activation to AMPA
            receptor trafficking.
REFERENCE   6  (bases 1 to 3494)
  AUTHORS   Nagashima,S., Fukuda,T., Kubota,Y., Sugiura,A., Nakao,M.,
            Inatome,R. and Yanagi,S.
  TITLE     CRMP5-associated GTPase (CRAG) protein protects neuronal cells
            against cytotoxicity of expanded polyglutamine protein partially
            via c-Fos-dependent activator protein-1 activation
  JOURNAL   J Biol Chem 286 (39), 33879-33889 (2011)
   PUBMED   21832068
REFERENCE   7  (bases 1 to 3494)
  AUTHORS   Qin,Q., Inatome,R., Hotta,A., Kojima,M., Yamamura,H., Hirai,H.,
            Yoshizawa,T., Tanaka,H., Fukami,K. and Yanagi,S.
  TITLE     A novel GTPase, CRAG, mediates promyelocytic leukemia
            protein-associated nuclear body formation and degradation of
            expanded polyglutamine protein
  JOURNAL   J Cell Biol 172 (4), 497-504 (2006)
   PUBMED   16461359
REFERENCE   8  (bases 1 to 3494)
  AUTHORS   Surks,H.K., Richards,C.T. and Mendelsohn,M.E.
  TITLE     Myosin phosphatase-Rho interacting protein. A new member of the
            myosin phosphatase complex that directly binds RhoA
  JOURNAL   J Biol Chem 278 (51), 51484-51493 (2003)
   PUBMED   14506264
  REMARK    GeneRIF: M-RIP can assemble a complex containing both RhoA and
            Myosin phosphatase myosin binding subunit, suggesting that M-RIP
            may play a role in myosin phosphatase regulation by RhoA
REFERENCE   9  (bases 1 to 3494)
  AUTHORS   Xia,C., Ma,W., Stafford,L.J., Liu,C., Gong,L., Martin,J.F. and
            Liu,M.
  TITLE     GGAPs, a new family of bifunctional GTP-binding and
            GTPase-activating proteins
  JOURNAL   Mol Cell Biol 23 (7), 2476-2488 (2003)
   PUBMED   12640130
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010973.7, AF413079.1 and
            BC048300.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_031946.6.
            
            Summary: This gene encodes an essential component of the
            N-methyl-D-aspartate (NMDA) receptor signaling complex which
            mediates long-term potentiation in synapses by linking activation
            of NMDA receptor to
            alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA)
            receptor trafficking. The encoded protein contains an N-terminal
            GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain
            and several C-terminal ankryn repeat domains. [provided by RefSeq,
            Apr 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF413079.1, SRR14038195.1321538.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000397238.7/ ENSP00000380413.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-371               AC010973.7         103193-103563
            372-399             AF413079.1         3-30
            400-402             AC010973.7         103592-103594
            403-3003            AF413079.1         31-2631
            3004-3494           BC048300.1         1215-1705
FEATURES             Location/Qualifiers
     source          1..3494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q36.1"
     gene            1..3494
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /note="ArfGAP with GTPase domain, ankyrin repeat and PH
                     domain 3"
                     /db_xref="GeneID:116988"
                     /db_xref="HGNC:HGNC:16923"
                     /db_xref="MIM:616813"
     exon            1..598
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             268..3003
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /note="isoform a is encoded by transcript variant 1; CRMP
                     (collapsin response mediator protein) associated; arf-GAP
                     with GTPase, ANK repeat and PH domain-containing protein
                     3; centaurin-gamma-3; CRAM-associated GTPase;
                     MR1-interacting protein"
                     /codon_start=1
                     /product="arf-GAP with GTPase, ANK repeat and PH
                     domain-containing protein 3 isoform a"
                     /protein_id="NP_114152.3"
                     /db_xref="CCDS:CCDS43681.1"
                     /db_xref="GeneID:116988"
                     /db_xref="HGNC:HGNC:16923"
                     /db_xref="MIM:616813"
                     /translation="MNFQAGGGQSPQQQQSLAAPGGGGAAAQQLVCGGQFGGAGPGAG
                     GGGGPSQQLAGGPPQQFALSNSAAIRAEIQRFESVHPNIYAIYDLIERIEDLALQNQI
                     REHVISIEDSFVNSQEWTLSRSVPELKVGIVGNLSSGKSALVHRYLTGTYVQEESPEG
                     GRFKKEIVVDGQSYLLLIRDEGGPPELQFAAWVDAVVFVFSLEDEISFQTVYNYFLRL
                     CSFRNASEVPMVLVGTQDAISAANPRVIDDSRARKLSTDLKRCTYYETCATYGLNVER
                     VFQDVAQKVVALRKKQQLAIGPCKSLPNSPSHSAVSAASIPAVHINQATNGGGSAFSD
                     YSSSVPSTPSISQRELRIETIAASSTPTPIRKQSKRRSNIFTSRKGADLDREKKAAEC
                     KVDSIGSGRAIPIKQGILLKRSGKSLNKEWKKKYVTLCDNGLLTYHPSLHDYMQNIHG
                     KEIDLLRTTVKVPGKRLPRATPATAPGTSPRANGLSVERSNTQLGGGTGAPHSASSAS
                     LHSERPLSSSAWAGPRPEGLHQRSCSVSSADQWSEATTSLPPGMQHPASGPAEVLSSS
                     PKLDPPPSPHSNRKKHRRKKSTGTPRPDGPSSATEEAEESFEFVVVSLTGQTWHFEAS
                     TAEERELWVQSVQAQILASLQGCRSAKDKTRLGNQNAALAVQAVRTVRGNSFCIDCDA
                     PNPDWASLNLGALMCIECSGIHRHLGAHLSRVRSLDLDDWPPELLAVMTAMGNALANS
                     VWEGALGGYSKPGPDACREEKERWIRAKYEQKLFLAPLPSSDVPLGQQLLRAVVEDDL
                     RLLVMLLAHGSKEEVNETYGDGDGRTALHLSSAMANVVFTQLLIWYGVDVRSRDARGL
                     TPLAYARRAGSQECADILIQHGCPGEGCGLAPTPNREPANGTNPSAELHRSPSLL"
     exon            599..657
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            658..745
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            746..831
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            832..973
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1108
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1236
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..1395
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1488
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1489..1593
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1762
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1763..1933
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1934..2071
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2072..2226
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2227..2317
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2318..2540
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2541..2796
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2797..3494
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3473..3478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /note="hexamer: AATAAA"
     polyA_site      3494
                     /gene="AGAP3"
                     /gene_synonym="AGAP-3; CENTG3; cnt-g3; CRAG; MRIP-1"
                     /note="major polyA site"
ORIGIN      
        1 gttgttgccg ctggaggctg ctccgaggca gcgggatcac ggcgctggga agcgctcggc
       61 agcggcggcc acagcgtgcg cggcggcgcc tcctggcctc ggcctccggc ccccggcccc
      121 cggctccatg cgctagcccc gcgccgccag cccagtagtc ccggccccgc cagccccgcg
      181 ctcccgctcg ccgctgccgc cgccgccgcc gccgccgcct ccgccgcgcc gccccgggcc
      241 cgcctcgggc cccacggctc cgaagccatg aacttccagg cgggcggggg gcagagcccg
      301 cagcagcagc agagcctggc ggctccgggg ggcggcggcg ctgccgcgca gcagctcgtc
      361 tgcggcgggc agttcggcgg cgcggggccc ggggccgggg gcggcggcgg cccctcgcag
      421 cagctggccg gcgggccccc ccagcagttc gcgctctcca actccgcggc catccgggcc
      481 gagatccagc gcttcgagtc cgtgcatccc aatatctacg ccatctacga cctgatcgag
      541 cgcatcgagg atttggcgct gcagaaccag atccgggagc acgtcatctc catcgaggac
      601 tcgtttgtga acagccagga gtggacgctg agccgctccg taccggagct taaagtgggc
      661 atagtgggga acctgtctag cgggaagtca gccctggtgc accgctatct gacggggacc
      721 tatgtccagg aggagtcccc tgaagggggg cggtttaaga aggagattgt ggtggatggc
      781 cagagttacc tgctgctgat ccgagatgaa ggaggccccc ctgagctcca gtttgctgcc
      841 tgggtggatg cagtggtgtt tgtgttcagc ctggaggatg aaatcagttt ccagacggtg
      901 tacaactact tcctgcgtct ctgcagcttc cgcaacgcca gcgaggtgcc catggtgctt
      961 gtgggcacgc aggatgccat cagcgctgcg aatccccggg ttatcgacga cagcagagcc
     1021 cgcaagctct ccacagatct gaagcggtgc acctactatg agacgtgcgc gacctacggg
     1081 ctcaatgtgg agcgtgtctt ccaggacgtg gcccagaagg tagtggcctt gcgaaagaag
     1141 cagcaactgg ccatcgggcc ctgcaagtca ctgcccaact cgcccagcca ctcggccgtg
     1201 tccgccgcct ccatcccggc cgtgcacatc aaccaggcca cgaatggcgg cggcagcgcc
     1261 ttcagcgact actcgtcctc agtcccctcc acccccagca tcagccagcg ggagctgcgc
     1321 atcgagacca tcgctgcctc ctccaccccc acacccatcc gaaagcagtc caagcggcgc
     1381 tccaacatct tcacgtctcg gaagggtgct gacctggacc gggagaagaa ggctgccgag
     1441 tgcaaggtgg acagcatcgg gagcggccgc gccatcccca tcaagcaggg gatcctgcta
     1501 aagcggagcg gcaagtccct gaacaaggag tggaagaaga agtatgtgac gctctgtgac
     1561 aacgggctgc tcacctatca ccccagcctg catgattaca tgcagaacat ccacggcaag
     1621 gagattgacc tgctgcggac aacggtgaaa gtgccaggga agcgcctgcc ccgagccaca
     1681 cctgccacag ccccgggcac cagcccccgt gccaacgggc tgtccgtgga gcggagtaac
     1741 acacagctgg gtgggggcac aggtgccccc cactcggcca gcagcgcatc cctgcactct
     1801 gagcgccccc tcagcagctc ggcctgggct ggcccgcgcc ctgaggggct gcaccagcgc
     1861 tcctgctccg tttccagcgc cgaccagtgg agtgaggcca ccacttccct gcccccaggc
     1921 atgcagcacc ctgccagtgg cccagctgag gtactcagtt ccagccccaa gctggatcct
     1981 cccccatctc cccactccaa ccggaagaag caccggagga aaaagagcac cgggaccccc
     2041 cgaccagacg gccccagcag tgctactgaa gaggcagagg agtcgtttga atttgtggtg
     2101 gtgtccctca ctgggcagac gtggcacttc gaggcttcaa cggcggagga gcgggagctg
     2161 tgggttcaga gtgtgcaggc ccagatcctt gccagcctgc aaggctgccg cagtgccaag
     2221 gacaagactc gactggggaa ccagaacgca gctctggctg tgcaggccgt ccgcaccgtc
     2281 cgcggcaaca gcttttgtat cgactgcgat gcacccaatc cagactgggc cagcctgaac
     2341 ctgggtgccc tgatgtgcat tgagtgctca ggcatccacc gacacctggg ggctcacctg
     2401 tcccgggtgc gctcccttga cctcgatgac tggccgcctg agctgctggc tgtcatgact
     2461 gccatgggca atgccctcgc caacagcgtc tgggaggggg ccttgggtgg ctactccaag
     2521 ccagggcctg atgcctgcag agaggagaag gaacgctgga tacgggccaa gtatgaacag
     2581 aagctcttcc tggccccact gccaagctca gatgtgccac tggggcagca gctgctccgg
     2641 gccgtggtgg aagatgacct gcggctgttg gtgatgctcc tggcacatgg ctccaaagag
     2701 gaggtgaatg agacctatgg ggacggggac gggcggacgg ctctacatct ctccagtgcc
     2761 atggccaacg ttgtcttcac gcagctgctc atctggtacg gggtggacgt gaggagccgg
     2821 gacgcccggg gcctgactcc actggcatat gctcgccggg ccggcagcca ggagtgtgca
     2881 gacatcttga tccagcatgg ctgccctggg gagggctgtg gcttagcgcc tacccccaac
     2941 agagagcctg ccaatggcac caacccctct gctgagctgc accgtagtcc tagcctccta
     3001 taaggcccag gaagagggca gaggggccag aaggactcca tggcccaaag accctcctcc
     3061 ctgcaggcac tgtgggaaca gacacagaga tggagaagca gggacatgct gagaggacga
     3121 agccaaggaa attagggagg agagtcaaag ggatcaagga gagttgggga tttgagctgc
     3181 agcagagagg gatgagggat ttagccctct gccctaaggt gccattgaaa agggacagga
     3241 cccttcggag gtgcctgtga ggagagggga gcaggacctc tccctcctcc agatccctgc
     3301 ctcctagtgc cagcccctca cacgccttca tcctgaaaca ggaagaggac ggcaccaagt
     3361 tgggggtgct ggatgaaaga gacgaggggt gatctgtgag tcccatgtaa actttgtaca
     3421 ttggaatatt tatgtttgtg tacatatttg atgtgtgtgt gtatgatgag ccaataaacc
     3481 agactgtgtg cgtg
//
